Undiagnosed Diseases Network Foundation Launches, Names CEO

Rare Daily Staff

A group of undiagnosed and ultra-rare diseases patients and their family members, medical providers, and advocacy partners launched the Undiagnosed Diseases Network Foundation, an organization that is working to improve access to diagnosis, research, and care for people with undiagnosed and ultra-rare diseases.

Veteran rare disease advocate Amy Gray will oversee the UDNF as its inaugural CEO. Gray brings more than 20 years of experience in rare disease focused nonprofits. Most recently, she served as CEO of the Charcot-Marie-Tooth Association.

There are more than 10,000 known rare diseases that affect about 1 in 10 people (or 30 million people) in the United States. For those with an ultra-rare disease, unnamed condition, or an atypical presentation of a rare disease, the search for a diagnosis can take decades and involve going from doctor to doctor without answers. Undiagnosed patients often face treatment delays, lack of access to specialists, invasive and costly tests, emotional distress, and longing for community. Undiagnosed and ultra-rare patients from historically marginalized communities have especially been left behind by healthcare systems.

The UDNF was conceived by patients and families enrolled in the Undiagnosed Diseases Network (UDN), a medical study funded by the National Institutes of Health that works to diagnose the most perplexing cases. The UDNF and UDN will partner together to pursue clinical and research solutions for the wellbeing of undiagnosed and ultra-rare disease patients. The organization will provide patient navigation, community education programs, and collaboration with the UDN.

Diverse stakeholders assembled this past year to discuss the National Institute of Health (NIH) Common Fund grant scheduled to end in June 2023. In 10 years, and through funding provided by the NIH Common Fund, the UDN has diagnosed 30 percent of the participants and identified over 50 new diseases. The UDNF and UDN will partner together to pursue clinical and research solutions for the wellbeing of undiagnosed and ultra-rare disease patients.

On December 22, 2022, Congress passed a spending bill for 2023 that includes $18 million to fund the UDN. While the funding secures the immediate future of the UDN, the new organization said advocacy efforts must continue to guarantee long-term sustainability.

Photo: Amy Gray, CEO of the Undiagnosed Disease Network Foundation